Children affected by complex endocrine disorders continue to face substantial and persistent barriers in diagnosis, treatment, and long-term care across Europe and worldwide. Diagnostic uncertainty remains common due to non-standardized criteria, limited validation of biomarkers, and unequal access to advanced testing. Fragmented care pathways and insufficient multidisciplinary coordination further undermine optimal management, particularly during the transition from pediatric to adult services. Pediatric drug development is constrained by small patient populations, ethical and regulatory challenges, and limited commercial incentives, resulting in therapeutic gaps. Families frequently shoulder considerable psychosocial and financial burdens, often without adequate educational, psychological, or social support. Addressing these inequalities requires strategic action to stimulate research innovation, harmonize diagnostic and training standards, improve equitable access to care and medicines, and strengthen patient and family empowerment through collaborative networks and advocacy. This document aimed to highlight these unmet medical needs and outline a path forward. By identifying key barriers and proposing strategic directions, ESPE seeks to foster collaboration among clinicians, researchers, policymakers, patient communities, and pharmaceutical partners. Only through coordinated action can we ensure that every child with an endocrine disorder receives equitable, timely, and high-quality care - regardless of where they live.
Stefano Cianfarani, Sommayya Aftab, Kanetee Busiah et al.
BACKGROUND: Persistent diarrhea, lactose intolerance, and gut dysbiosis are major gastrointestinal conditions that worsen malnutrition in children, especially in low and middle-income countries. Due to these factors, there is a vicious cycle in which diarrhea worsens malnutrition by reducing the gut’s capacity to absorb nutrients. Persistent diarrhea is defined by WHO, diarrhea (≥ 3 loose/watery stools daily) lasting 14 days or longer posing higher risk of malnutrition than acute diarrhea. METHODS: This review explores the interconnected nature of these conditions and their cumulative impact on child health and development. A comprehensive literature review was conducted using databases such as Google Scholar, PubMed, Web of Science and Scopus, focusing on studies examining the pathophysiology, clinical manifestations, and management strategies in malnourished children. This review explores current evidences on etiology (E. coli, Cryptosporidium, sequential infections), pathophysiology (malabsorption, villus atrophy, enteric inflammation), dietary interventions (zinc, vitamin A, glucose-polymer ORS) and microbiome-based (probiotics, dysbiosis, correction) strategies of persistent diarrhea. RESULTS: Findings show that persistent diarrhea causes mucosal damage and nutrient malabsorption, while secondary lactose intolerance leads to osmotic diarrhea and further caloric loss. Gut dysbiosis, marked by the depletion of beneficial bacteria and overgrowth of pathogens, impairs digestion, disrupts immune function, and sustains chronic inflammation. Together, these conditions create a vicious cycle that perpetuates malnutrition and stunting. Recommended interventions include oral rehydration therapy, lactose-restricted diets, micronutrient supplementation (particularly zinc and vitamin A), and microbiota-based therapies such as probiotics and prebiotics. CONCLUSION: The review concludes that integrated approaches—combining nutritional support, microbiome restoration, and improved hygiene—are essential for breaking the cycle of malnutrition and gastrointestinal disease. Addressing these issues through targeted public health policies and personalized interventions can significantly improve outcomes for vulnerable pediatric populations.
Saadia Khan, Muhammad Tauseef Sultan, Asad Abbas et al.
BACKGROUND: Congenital Diarrhea and Enteropathies (CODEs) are rare monogenic disorders with early-onset diarrhea, feeding intolerance, and malabsorption causing secondary failure to thrive (FTT). ACSL5 deficiency is an emerging CODE subtype linked to defective intestinal fatty acid metabolism and dysregulated satiety signaling. CASE PRESENTATION: A female infant presented with chronic diarrhea, postprandial vomiting, and severe growth faltering. First-line evaluations were unrevealing. Proband-only whole-exome sequencing (WES) identified a novel homozygous missense variant in ACSL5, NM_016234.4:c.1748G > A, p.(Gly583Asp) (OMIM #620357), absent from population/clinical databases; in the context of consanguinity and fitting phenotype, findings supported ACSL5-related CODE. A medium-chain triglyceride (MCT)-enriched, low-fat diet started at 8 months led to resolution of gastrointestinal symptoms within weeks and sustained catch-up growth. At 4 years, the child was asymptomatic with weight/height around the 50th percentiles and normal development. CONCLUSIONS: This case broadens the clinical/variant spectrum of ACSL5-related enteropathy and highlights a dual mechanism, impaired intestinal long-chain fatty-acid activation with enteroendocrine dysregulation. Early exome sequencing and MCT-based nutrition can enable rapid symptom control and durable growth recovery.
INTRODUCTION: Maternal and child undernutrition remains a major public health challenge globally, with the highest burdens observed in low- and middle-income countries. Coexisting maternal and child undernutrition has serious implications for survival, growth, and quality of life.Maternal and child undernutrition is a complex, multifactorial issue influenced by a web of interconnected determinants including health, socio-economic status, education and environmental conditions. OBJECTIVES: To examine the spatial distribution and multilevel determinants of coexisting maternal and child undernutrition in Ethiopia using EDHS data from 2000-2016. METHODS: We analyzed a weighted sample of 33,445 participants from four consecutive EDHS surveys. Spatial autocorrelation, hotspot, and interpolation analyses were conducted using ArcMap 10.8. Multilevel logistic regression was performed in Stata 17. Cluster variability was assessed using ICC, MOR, and PCV. Variables with p < 0.05 were considered statistically significant. RESULT: A total of 33,445 weighted sample was used for this study. The prevalence of coexisting maternal and child undernutrition was 22.87% (95% CI: 22.42, 23.32). Spatial analysis result showed that hot spot areas were concentrated in the northern regions especially Tigray, Amhara, and parts of Benishangul-Gumuz. Multilevel logistics regression analysis result revealed that maternal primary education (AOR = 0.88; 95% CI: 0.78, 0.98), secondary/higher education (AOR = 0.38; 95% CI: 0.29, 0.49), medium household wealth (AOR = 0.85; 95% CI: 0.75, 0.97), high household wealth (AOR = 0.78; 95% CI: 0.69, 0.89), child age 12-23 months (AOR = 2.77; 95% CI: 2.44, 3.16), ANC use (AOR = 0.83; 95% CI: 0.75, 0.92), improved toilet (AOR = 0.83; 95% CI: 0.71, 0.98) and regions. CONCLUSION AND RECOMMENDATIONS: Coexisting maternal and child undernutrition shows marked geographic clustering in northern Ethiopia. Strengthening maternal education, improving household economic conditions, enhancing ANC use, and expanding sanitation services particularly in high-risk regions are essential to reduce the burden.
Mekuriaw Nibret Aweke, Habtamu Abebe Getahun, Samuel Teferi Chanie et al.
Published population-based data regarding physical growth of Vietnamese children is meager. We analyzed anthropometric data from 2018 to 2024 of 202,163 annual health check visits of 88,884 children aged from 18 months to 18 years attending private schools in 3 major cities in Vietnam (Hochiminh, Hanoi and Haiphong) to evaluate physical growth, especially overweight and obesity, temporal trends and regional disparities in the physical growth of Vietnamese children. The prevalence (95% confidence interval (CI)) of overweight and obesity was strikingly high for males (47.7% (47.3%, 48%)) and females (26.3% (26%, 26.7%)) aged from 5 years to 18 years. This was approximately three and two folds, respectively, higher than WHO cutoff values for very high public health significance. There was a significant decrease in overweight and obesity prevalence and a significant increase in median height of adolescents from 2018 to 2024. The prevalence of overweight and obesity was highest in Haiphong and the median height for most age in years of males and females was shortest in Haiphong as compared to Hanoi and Hochiminh. Our findings indicate that prevention and control measures should be implemented to reduce the burden and related health issues of overweight and obesity in Vietnamese urban children.
Nhan Thi Ho, David Bangsberg, Michelle L Hermiston et al.
BACKGROUND: Congenital hypothyroidism (CH) is a preventable cause of growth and neurodevelopmental deficits. In India, lack of universal newborn screening (NBS) delays diagnosis. This study examines how treatment timing influences growth, nutrition, and body proportionality in children with CH. METHODS: This cross-sectional study included 66 children with CH, aged under 5 years, receiving Levothyroxine(LT4) therapy for one year. Age and sex-matched 64 healthy children were also enrolled. Children with CH were stratified into early-treated (<3months) and late-treated (>3months) groups. Anthropometric measurements were converted to Z-scores using WHO standards. Body proportionality was assessed using: height-arm span difference, upper segment-to-lower segment (US: LS) ratio, Manouvrier's Indice Skélique (MIS). MIS classifies skeletal proportions as brachyskelia (short legs, long trunk; score ≤84.9), mesatyskelia (intermediate; 85.0-89.9), and macroskelia (long legs, short trunk; ≥90). RESULTS: Children with CH had significantly lower height-for-age (HAZ -2.31 ± 1.32 vs. -0.41 ± 0.96), weight-for-age (WAZ -1.98 ± 1.41 vs. -0.36 ± 1.02), and head circumference-for-age (HCZ -1.52 ± 1.28 vs. -0.21 ± 0.89) Z-scores compared with healthy controls (all p < 0.001). Stunting (HAZ < -2 SD) was present in 53% of children, while underweight (WAZ < -2 SD) was observed in 36.4%. Late-treated children had a higher prevalence of severe stunting (67.7% vs. 11.4%), severe underweight (29.0% vs. 2.9%), and microcephaly (35.5% vs. 8.6%) compared with early-treated children (p < 0.05). Disproportionate stature was observed in 71.0% of late-treated children compared with 42.9% of early-treated children (p < 0.05). US: LS ratio and Manouvrier's Index further confirmed greater skeletal disproportionality in late-treated children compared with early-treated children (p < 0.05). CONCLUSIONS: Delayed treatment in CH significantly impairs growth, increases skeletal disproportionality, and adversely affects neurocranial development. Early initiation of therapy-ideally within the first 3 months-is essential. These findings highlight the need for newborn screening in India.
Background/Objectives: Infant acute malnutrition increases the risk of morbidity and mortality but also has adverse effects on growth, cognitive development, and quality of life. Ready-to-use therapeutic foods (RUTFs) represent the standard treatment in moderate (MAM) or severe acute malnutrition (SAM) cases, but acceptability and adherence in culturally diverse settings remain poorly understood. To evaluate the acceptability and adherence to RUTF treatment among children with MAM or SAM in rural and indigenous communities of three Mexican states. Methods: We conducted a mixed-methods study in Chihuahua, Guerrero, and Chiapas between February and August 2024. A total of 66 children aged 6-59 months with confirmed MAM or SAM diagnoses were enrolled, with 48 completing the study. Acceptability was assessed by weighing leftovers of the consumption RUTF sachet and using 5-point hedonic scales evaluating taste, texture, appearance, and smell. Adherence was measured by comparing consumed versus prescribed RUTF sachets. Semi-structured interviews with primary caregivers explored perceptions, barriers, and facilitators of RUTF use. Results: Consumption-based acceptability was achieved by 85% of participants. On the 5-point hedonic scale, 77% of participants rated RUTF as pleasant or very pleasant. Overall treatment adherence was adequate (≥70%) in 79.2% of cases. Qualitative information revealed primary caregivers' perceptions about weight gain and increased appetite as benefits. Conclusions: Since acceptability and adherence were adequate and a high score was obtained on the hedonic scale, which led to an improvement in the nutritional status of MAM or SAM cases, the feasibility and acceptability of RUTFs in highly vulnerable community contexts in Mexico was reaffirmed.
Edgar Arturo Chávez Muñoz, Ana Lilia Lozada Tequeanes, Selene Pacheco Miranda et al.
INTRODUCTION: Nodding syndrome (NS), a poorly understood severe neurological disorder develops in children. In Uganda, some NS cases have grown into child-bearing adults. Babies born to mothers with NS may be prone to impaired neurodevelopmental outcomes. Cognitive deficits in mothers with NS may further inhibit care offered to their children hence compromising neurocognitive development, physical growth, and behaviour. OBJECTIVES: The study aimed to determine the neurodevelopmental, behavioural, nutritional, and physical growth outcomes of children whose mothers have nodding syndrome. METHODS: A comparative cross-sectional study was conducted between May 2021 and April 2022 in Northern Uganda. Children aged 0-5 years of mothers with NS were compared to those of mothers without NS, matched by age, gender and neighbouring residence. Neurodevelopment, behaviour, nutrition, and physical growth were assessed using standardized measures and t-tests employed for group comparisons of outcomes. RESULTS: Overall,106 children participated. Fifty-three (53) were offspring of mothers with NS and 53 of mothers without NS; having a mean age of 26.9 (2.22) and 27.5(2.12) months respectively. Children whose mothers have NS had significantly lower neurodevelopmental scores than those of NS-unaffected mothers in fine motor (37.5(12.1) vs 44.2(14.3), p = 0.011), receptive language (37.8(10.8) vs 43.9(12.9), p = 0.010), overall cognitive development (74.36(17.8) vs 83.34(19.6), p = 0.015), and attention (0.64(0.20) vs 0.76(0.15), p = 0.001). There were no differences in the behaviour scores. Children of mothers with NS also had significantly lower weight-for-age z scores (WAZ) (p = 0.003) and length/height-for-age z scores (LAZ/HAZ) (p = 0.001); with 19(35.9 %) of them stunted. CONCLUSION: Children whose mothers have NS have poorer neurodevelopmental, nutritional, and physical growth outcomes. Interventions to improve outcomes in these children are warranted.
Mary Nyakato, Shubaya Kasule Naggayi, Pamela Rosemary Akun et al.
BACKGROUND: To examine the characteristics and factors associated with bone maturation among children aged 6-15 years in Shenzhen, stratified by sex, age, and pubertal stage. METHODS: The Evaluation and Monitoring on School-based Nutrition and Growth in Shenzhen, China' data on body mass index, body composition, bone age (BA), and biochemical examinations were analyzed. The Z-score of BA minus chronological age (ZBA-CA) was calculated for the same sex, age, and pubertal stage. RESULTS: We included 3780 students aged 6-15 years, comprising 2091 (55.3%) boys and 1689 (44.7%) girls. The proportions of children with BA advancement ≥2 years were 10.1% for boys and 9.9% for girls. We established the standard deviation curves of BA-CA for boys and girls with normal weights at different ages under different pubertal stages. Visceral fat area rank (VFA-R) and relative handgrip strength rank (RHGS-R) correlated positively with ZBA-CA at each quantile in boys, while only VFA-R correlated positively in girls. CONCLUSIONS: Bone maturation should be evaluated according to sex, age, nutritional status, and pubertal stage. VFA-R and RHGS-R were positively correlated with ZBA-CA, independent of the nutritional status. IMPACT STATEMENT: We produced the first standard deviation curves of bone age minus chronological age (BA-CA) for children aged 6-15 years, stratified by sex, age and pubertal stage, to evaluate bone maturation. Our findings revealed that body composition index might affect bone maturation independent of nutritional status. Body mass index, commonly used to evaluate obese children with advanced bone age, does not account for differences and relationship between body composition and bone maturation. These findings offer valuable insights for clinical practice to formulate targeted interventions for slowing down bone maturation and improving growth-related disorders' management in children.
OBJECTIVES: To assess the maternal and child factors associated with developmental defects of the enamel (DDE) in a cohort of 2-year-old children. METHODS: This study analysed data from the MINA-Brazil birth cohort study. A total of 800 mother-child pairs were surveyed. Oral clinical examinations were conducted using the modified DDE Index. Associated factors in the pre-, peri- and post-natal periods were collected by standardised procedures. Crude and adjusted Poisson regression models with robust variance, following a hierarchical framework selection of covariates, were used to determine the relationships between maternal and child factors and DDE. RESULTS: The prevalence of DDE was 29.5% (95% CI 26.3%-32.7%), and children's mean age was 23.8 ± 1.3 months. Maternal age below 21 years at the time of delivery (PR 1.51, 95% CI 1.16-1.98), pregnant women as the head of the family (PR 1.36, 95% CI 1.03-1.80), multiparity (PR 1.41, 95% CI 1.09-1.82), large for gestational age newborns (PR 1.47, 95% CI 1.13-1.91), otitis media in the first few months of life (PR 2.43, 95% CI 1.43-4.13) and stunting at 1 year (PR 2.21, 95% CI 1.38-3.54) were all associated with DDE. CONCLUSIONS: Several maternal sociodemographic and obstetric factors, as well as perinatal morbidity and nutritional factors, may be determinants of DDE in infants. This emphasises the importance of child development and sociodemographic factors for oral health. Future studies should consider both longitudinal and transdisciplinary approaches.
Emanuella Pinheiro, Jenny Abanto, Elzir de Souza Costa et al.
